Gene: KCNH7

Alternate names for this Gene: ERG3|HERG3|Kv11.3

Gene Summary: Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms.

Gene is located in Chromosome: 2

Location in Chromosome : 2q24.2

Description of this Gene: potassium voltage-gated channel subfamily H member 7

Type of Gene: protein-coding

rs142647938 in KCNH7 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs142647938 in KCNH7 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs142647938 in KCNH7 gene and AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs142647938 in KCNH7 gene and Autoimmune Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs33998987 in KCNH7 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs4667466 in KCNH7 gene and Diabetic Nephropathy PMID 26305897 2015 Genome-Wide Association and Trans-ethnic Meta-Analysis for Advanced Diabetic Kidney Disease: Family Investigation of Nephropathy and Diabetes (FIND).

rs147910466 in KCNH7 gene and Hypothyroidism PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs17716942 in KCNH7 gene and Psoriasis PMID 25574825 2015 Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.

PMID 20953190 2010 A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

PMID 23143594 2012 Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

rs17716942 in KCNH7 gene and Psoriasis vulgaris PMID 26626624 2015 Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture.